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Page 1
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Sobacchi C, et al. Among authors: coxon fp. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632511
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Guerrini MM, et al. Among authors: coxon fp. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015. Am J Hum Genet. 2008. PMID: 18606301 Free PMC article.
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. Van Wesenbeeck L, et al. Among authors: coxon fp. J Clin Invest. 2007 Apr;117(4):919-30. doi: 10.1172/JCI30328. J Clin Invest. 2007. PMID: 17404618 Free PMC article.
A new familial sclerosing bone dysplasia.
Chouery E, Pangrazio A, Frattini A, Villa A, Van Wesenbeeck L, Piters E, Van Hul W, Coxon FP, Schouten T, Helfrich M, Lefranc G, Mégarbané A. Chouery E, et al. Among authors: coxon fp. J Bone Miner Res. 2010 Mar;25(3):676-80. doi: 10.1359/jbmr.090733. J Bone Miner Res. 2010. PMID: 20422625 Free article.
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH. Stattin EL, et al. Among authors: coxon fp. Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2. Sci Rep. 2017. PMID: 28592808 Free PMC article.
54 results